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Identification of OCRL1 mutations in two Taiwanese Lowe syndrome patients.

Acta paediatrica Taiwanica = Taiwan er ke yi xue hui za zhi - 1 Jan 2000

Chou Yen-Yin, Chao Sheau-Chiou, Chiou Yuan-Yow, Lin Shio-Jean

Abstract excerpt

The oculocerebrorenal syndrome of Lowe (OCRL) is a rare X-linked multisystem disorder characterized by congenital cataracts, mental retardation, and renal tubular dysfunction. The OCRL1 gene responsible for Lowe syndrome has been mapped to chromosome Xq24-q26. We analyzed two Taiwanese OCRL patients and their families. In Case 1, a splicing mutation (889-11 G --> A) was identified in intron 10 of the OCRL1 gene....

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Source

Identifiers

PMID: 16381338

Genes

OCRL

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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